Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001043298 | SCV001207026 | pathogenic | PRPH2-Related Disorders | 2023-09-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PRPH2 protein function. ClinVar contains an entry for this variant (Variation ID: 98711). This missense change has been observed in individuals with clinical features of autosomal dominant cone dystrophy (PMID: 9052636; Invitae). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs61755766, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 27 of the PRPH2 protein (p.Ser27Phe). |
| Blueprint Genetics | RCV001074280 | SCV001239853 | likely pathogenic | Retinal dystrophy | 2019-05-24 | criteria provided, single submitter | clinical testing | |
| Retina International | RCV000085024 | SCV000117160 | not provided | not provided | no assertion provided | not provided | ||
| Leiden Open Variation Database | RCV000085024 | SCV001745031 | likely pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |